Specimens and Shipping - Provider FAQs
Specimen requirements
A very small percentage of non-invasive prenatal screening tests will experience test failure. We categorize these failures as the following:
1) Low fetal fraction failure
This failure type means that the fetal fraction, or percentage of the cell-free DNA that was placental or fetal in origin, was <1%. At very low fetal fractions, it becomes more difficult to accurately call the presence or absence of an aneuploidy. Our test is validated to make positive or negative calls only when the fetal fraction is >1%.
Factors that are known to be associated with a decreased fetal fraction:
Maternal body mass index Maternal autoimmune disease Maternal stressors including physical activity Pregnancy via assisted reproductive technology (e.g., in vitro fertilization) Heparin (possible) Trisomy 13; trisomy 18; 45,X Mosaicism Triploidy
We will accept one additional sample at your discretion. If the second failure also fails for this reason, we would not recommend a third attempt and instead consider alternative testing for fetal aneuploidy. Please note, however, that ACMG recommends diagnostic testing as a follow-up to a low fetal fraction failure due to possible increased risk for pregnancy complications including aneuploidies (PMID 27467454) and to use your clinical judgement in determining if a second attempt is appropriate.
2) Elevated cell-free DNA failure
An elevated cell free DNA failure means that the overall amount of cell-free DNA in the sample (maternal, placental, and fetal combined), was above the acceptable concentration range. This is usually due to increased lysis of maternal cells that leads to an abnormally high amount of maternal cell-free DNA in the sample. It is possible that the blood collection technique may play a role in this type of failure. In order to reduce the risk of this failure type, it is recommended that the blood is collected using a 21-gauge straight needle and that the tube is gently inverted at least 10 times immediately after the blood draw.
We will accept one additional sample at no additional charge to reattempt the analysis. If the second failure also fails for this reason, we would not recommend a third attempt and instead the patient should consider alternative testing for fetal aneuploidy.
3) Specimen does not meet quality metrics failure
A failure that states that the specimen does not meet quality metrics may be due to improper blood draw technique, poor sequencing quality, insufficient overall quantity of total cell free DNA, underlying biological reasons (such as maternal autoimmune conditions or medications), errors in laboratory processing, or various other issues.
We will accept one additional sample at no additional charge to reattempt the analysis. If the second failure also fails for this reason, we would not recommend a third attempt and instead consider alternative testing for fetal aneuploidy.
4) Multiple copy number variants detected failure
This type of failure means that when evaluating the markers used for quality control purposes, several nonspecific copy number variants were detected in this sample, thereby precluding accurate assessment for fetal aneuploidy for 13, 18, 21 and/or microdeletions.
Reasons for this failure can include :
Fetal chromosome abnormalities, typically presenting with fetal anomalies Maternal B12 deficiency Possibly maternal autoimmune disease Possibly intrahepatic cholestasis of pregnancy Maternal benign tumors, such as uterine fibroids Maternal malignancy. (Of important note, the rate of maternal malignancy in patients with this type of sample failure and normal fetal ultrasounds has been seen to be as high as 41.9% (Dharajiya NG, 2018 - PMID: 28982650))
Genetic counseling, clinical correlation, and/or clinical followup for the above fetal or maternal possibilities is recommended (PMID: 29420407). Repeat testing on an additional sample is not recommended.
5) Microdeletion only failure
In a small percentage of tests, the sample data meets our quality metrics for interpreting the results for 21, 18, 13, and X, and Y (when appropriate), but the quality metrics for assessing microdeletions is insufficient and therefore the risk of microdeletions cannot be confidently interpreted. This can happen because the abnormalities that cause microdeletion syndromes are physically much smaller than whole chromosome aneuploidies, such as Down syndrome, and therefore the sample data must meet higher quality metrics to produce a result for microdeletion syndromes.
In this type of failure, Invitae still issues a report for the 21, 18, 13, X, and Y (when applicable) and a clinical comment will indicate the microdeletions were not completed.
We will accept one additional sample at no additional charge to reattempt the analysis. If the second failure also fails for this reason, we would not recommend a third attempt and instead consider alternative testing for fetal aneuploidy.
Yes. For diagnostic panel testing and carrier screening, we can send specimen collection kits for blood, saliva, or assisted saliva to you free of charge. The kits are equipped with all necessary shipping materials. (Please note that assisted saliva kits cannot be used for STAT turnaround time tests.)
Invitae's blood, saliva, assisted saliva, and buccal swab collection kits can also be used for exome testing. If ordering an exome trio or duo, please request three or two kits respectively. For a proband-only exome test, a single kit is sufficient. Visit our Request a Kit page to learn more.
We also provide collection kits for reproductive and family health tests other than carrier screening. Visit our Request a Kit page to learn more.
A printed copy of the completed requisition form must accompany each specimen. You can download and print requisition forms after completing the online requisition process.
If Invitae will be billing a US insurance provider, we require the insurance information or a copy of the front and back of the patient’s insurance card. A letter of medical necessity (LOMN) is also preferred, but not required.
International shipments have additional requirements; please see the Specimen Requirements page for more information.
We do accept and process DNA specimens for diagnostic testing, proactive health panels, and carrier screening. Please note that DNA must be extracted in a CLIA or other suitably certified laboratory. However, at this time, deletion/duplication analysis is not guaranteed for DNA samples regardless of tissue source. Deletion/duplication analysis will be attempted for all DNA samples; however, the success rate varies depending on sample quality. If you require deletion/duplication analysis, please provide a whole blood or saliva sample.
Previously extracted DNA is not accepted for STAT panel testing at this time.
For more information, please see the "DNA" tab on our Specimen Requirements page or contact Client Services.
Invitae accepts post-mortem specimens that meet the specimen requirements described on our Specimen Requirements page for panel testing.
Invitae does not provide DNA banking services and is unable to return any remaining specimen after analysis at this time. Please contact Client Services before sending us a post-mortem specimen.
We accept fetal specimens for several reproductive and family health tests.
For Invitae panel tests:
- We can accept fetal specimens from a deceased fetus only (not from an ongoing pregnancy). The specimen must be in the form of blood or extracted DNA.
- We do not perform maternal cell contamination studies at Invitae. A negative MCC report must accompany the sample.
- Billing is patient-pay or institutional billing only; we cannot bill insurance for tests run on post-mortem fetal specimens at this time.
- Please include the name of the mother on the test requisition (in addition to information on the type of sample being sent), as the name of the patient will be assigned as "mother's name (deceased fetus of)" or "mother's name (POC of)."
- In the Specimen Information section of the test requisition form, please write in that this is a post-mortem fetal sample and, in cases of extracted DNA, the source of the sample.
Invitae's saliva sample collection kit provides the materials and instructions for collecting and stabilizing saliva specimens. Please do not use buccal swabs or any other collection kit.
Before collecting a saliva sample using Invitae's kit, do not remove the plastic film from the funnel lid. The following tips can optimize saliva collection:
Before providing the sample, the patient should not drink (even water) for 30 minutes
Collecting saliva too soon after drinking anything, including water, dilutes saliva and reduces the amount of DNA.Before providing the sample, the patient should not eat, smoke, or chew gum for 30 minutes
In addition to diluting the sample, eating could introduce non-human DNA to the sample.Bubbles do not count
Make sure that the liquid saliva reaches the “Fill to” line; any bubbles should be above the line. This will ensure that enough saliva is collected.Ongoing medical treatment
If the patient is undergoing medical treatment that reduces their white blood cell count (such as chemotherapy), it’s best to wait until the white blood cell count has returned to normal before providing a saliva sample.It’s easier to collect large amounts of saliva in the mouth before spitting (rather than spitting small amounts more often).
It takes most people 2 to 5 minutes to provide a saliva sample. If your patient is still having trouble, the following suggestions can help increase saliva production:
- Closing the mouth and wiggling the tongue
- Gently rubbing the outside of the cheeks, just behind the back teeth
- Making chewing motions with the mouth
- Smelling or imagining smelling sour foods such as lemons
- Thinking about one's own favorite food
If the suggestions above don’t work, try placing a few granules of sugar (just enough to taste it) or one drop of lemon juice on the tongue. This small amount of food won’t affect the results and could help stimulate saliva.
Once the patient is ready to provide a saliva sample, follow these steps:
1) Ask the patient to spit into funnel until the amount of liquid saliva (not bubbles) reaches the fill line.
2) Hold the tube upright with one hand. Close the funnel lid with the other hand by firmly pushing the lid until you hear a loud click. The liquid in the lid will be released into the tube and mixed with the saliva. Make sure that the lid is closed tightly.
We request that a full 2 mL of saliva be donated prior to capping the kits to be valid for our genomic analysis. Should you not have completed the 2-mL donation before capping the tube, please request another collection kit.
3) Hold the tube upright. Unscrew the funnel from the tube.
4) Use the small cap to close the tube tightly.
5) Shake the capped tube for 5 seconds. Discard or recycle the funnel.
Multilingual user instructions and instructional videos are available online for both the US kits and International kits.
After completing the saliva donation, there are no special storage requirements for shipping the tube to Invitae. The saliva kit is stable at room temperature. For more information, please contact Client Services.
All required materials for collection and detailed instructions are included in every kit.
Collection precautions
Ensure the sponge tip does NOT come into contact with any surface prior to collection.
The patient should not eat, drink (including water), smoke or chew gum or put anything in their mouth 30 minutes prior to collecting a sample. Babies should not breastfeed 30 minutes prior to collection.
Choking hazard. Caution should be used when inserting sponge into the mouth.
Do NOT ingest. Wash with water if the tube liquid comes in contact with eyes or skin. Click here to view the device safety data sheet.
Collection instructions
1) Open package and remove collector without touching sponge tip. Place sponge as far back in the mouth as comfortable and rub along the lower gums in a back and forth motion. Gently rub the gums 10 times. If possible, avoid rubbing the teeth.
2) Gently repeat rubbing motion on the opposite side of the mouth along the lower gums an additional 10 times.
3) Hold the tube upright to prevent the liquid inside the tube from spilling. Unscrew the blue cap from the collection tube without touching the sponge.
4) Turn the cap upside down, insert the sponge into the tube and close cap tightly.
5) Invert the capped tube and shake vigorously 10 times.
Click here to view detailed instructions with step-by-step illustrations.
Click here to view an instructional video.
Additional notes
Kit intended use: This product is designed for the collection and stabilization of DNA from human oral samples.
Kit contents: 2 ORAcollectDx OCD-100 collection devices
Multilingual user instructions and instructional videos are available online for both the US kits and international kits.
For more information, please contact Client Services.
Invitae's saliva sample collection kit provides the materials and instructions for collecting and stabilizing saliva specimens.
Before collecting a saliva sample the patient should not eat, drink, smoke, or chew gum for 30 minutes. Do not offer mother’s milk or formula to infants in the 30 minutes prior to sample collection. In addition, do not remove the plastic film from the funnel lid.
Sample collection from infants and young children can take time. It can be helpful to provide entertainment or distraction for the patient to improve their tolerance. While collection is not at all painful, it does involve the patient holding their mouth open for periods of time while a person collects their saliva.
1) Place sponge in mouth, running along the cheek and the gums. Saliva often accumulates under the tongue, so swirling the sponge in this area can help with sample collection.
2) Insert saturated sponge in V-notch of funnel and wring the saliva out, allowing the saliva to release into the tube.
3) Repeat collection steps until saliva reaches the fill line.
4) Close the lid tightly until you hear a loud click. Unscrew the funnel from the tube, place the small cap on tightly, and shake for a few seconds.
Multilingual user instructions and instructional videos are available online for both the US kits and International kits.
After completing the saliva donation, there are no special storage requirements for shipping the tube to Invitae. The saliva kit is stable at room temperature. For more information, please contact Client Services.
Invitae discards blood and saliva specimens after 30 days. In unusual cases when testing takes longer than 30 days, the specimen will be retained until the report is delivered, which may be up to 60 days, or otherwise in accordance with Invitae policy and regulatory requirements.
After a specimen is destroyed, if another Invitae test is ordered for the same individual, a new specimen may be required.
In accordance with policies applicable to CLIA-certified laboratories and applicable laws, some specimens may be de-identified and retained beyond 60 days for laboratory process and quality improvement purposes.
If the specimen contains a substantial burden of circulating tumor cells, testing and results may be affected. Specifically, this can result in:
- sample failure (during quality control processes)
- deletion/duplication analysis failure
- false negatives due to changes in the tumor cell line concealing inherited variants
- false positives due to changes in the tumor cell line appearing to be inherited
If the malignancy is not presently circulating in the peripheral blood, it is likely that the test will be completed and that results will not be affected.
If there are actively circulating tumor cells, testing a sample type not derived from blood (such as skin biopsy) is suggested. While we do not accept this sample type directly, we can accept DNA derived from skin or muscle. However, we cannot guarantee deletion/duplication analysis, as success rate varies based on sample quality.
Finally, it is important to note that we cannot process blood or saliva samples from patients that had allogeneic (non-self) bone marrow or stem cell transplants.
Shipping
When shipping from the US and Canada:
Collection kits come with a pre-populated shipping label and instructions; alternatively, send the sample in a crush-proof container via FedEx Priority Overnight to the following address:
Attn: Client Services
Invitae Corporation 1400 16th Street San Francisco, CA 94103Please contact Client Services for Invitae’s FedEx account number. If you choose to use your institution’s own shipping method, please send the tracking number to clientservices@invitae.com. We accept deliveries Monday through Friday, excluding holidays.
When shipping from Europe, the Middle East, and Africa:
Collection kits come with a FedEx air waybill. Simply follow the instruction card in the kit box and contact FedEx to schedule a pick-up.
Alternatively, you can arrange your own shipping; please contact globalsupport@invitae.com for Invitae’s regional shipping address. We accept deliveries Monday through Friday, excluding holidays.
The price of Invitae testing includes shipping when a sample is mailed from the US, Canada, Europe, the Middle East, and Africa. For other geographies, the cost of shipping is at the expense of the sender.
Please click here to request a sample collection kit.
Invitae accepts but does not guarantee specimen delivery on Saturdays. Exceptions are NIPS and PGT specimens which include Saturday delivery via FedEx.
Please note that Invitae observes the FedEx Holiday Service Schedule.